rs909253

This is a regulatory region variant variant in the LTA gene.

ClinVar annotation

Risk Factor
1 submitter3 publications

Myocardial infarction, susceptibility to; Psoriatic arthritis, susceptibility to

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Research that mentions this SNP (6)

Association of lymphotoxin‐alpha gene polymorphisms (rs909253, rs1800683 and rs2229094) and risk of large‐artery atherosclerosis stroke in Iranian population
AssociationAli Fasihi et al.(2020)· The Journal of Gene Medicine

Fasihi et al. investigated the association between three lymphotoxin-alpha (LTA) gene polymorphisms (rs909253, rs1800683, and rs2229094) and the risk of large-artery atherosclerosis stroke in an Iranian population. This case-control genetic association study examined whether these LTA variants contribute to stroke susceptibility in the Iranian cohort.

Traits studied:Ischemic strokeLarge-artery atherosclerosis stroke
Identification of ANKK1 rs1800497 variant in schizophrenia: New data and meta‐analysis
AssociationN=446Chen Zhang et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Association study of 446 Russian schizophrenia patients examining the functional ANKK1 rs2734849 polymorphism and antipsychotic-induced hyperprolactinemia (HPRL). The C allele was significantly associated with higher HPRL risk (OR=1.30, p=0.05 in total group; OR=1.49, p=0.04 in females), while the T allele was protective. This variant likely affects DRD2 expression through NFκB signaling, influencing D2 receptor density on pituitary lactotrophs.

Traits studied:Antipsychotic-induced hyperprolactinemiaSchizophrenia
Associations between interleukin‐6 gene −174 C/G and −572 C/G polymorphisms and the risk of gastric cancer: A meta‐analysis
AssociationN=213Yan‐Wei Yin et al.(2012)· Journal of Surgical Oncology

Turkish case-control study examining TRAIL and TRAIL-DR4 gene polymorphisms in gastric cancer. Compared TRAIL C1595T (rs1131580) and TRAIL-DR4 C626G (rs20575) genotype frequencies between 50 gastric cancer patients and 163 healthy controls. No significant association found between either polymorphism and gastric cancer risk (p>0.256, p>0.189) or clinical parameters including tumor stage, lymph node involvement, distant metastasis, and perineural invasion. Serum TRAIL levels were also not significantly different between groups (p>0.33).

Traits studied:Gastric cancerGastric cancer susceptibility
Single nucleotide polymorphisms of 8 inflammation‐related genes and their associations with smoking‐related cancers
AssociationN=3,715Sam S. Oh et al.(2010)· International Journal of Cancer

This case-control study evaluated 12 SNPs in 8 inflammation-related genes across three studies (Los Angeles, Taixing China, and Memorial Sloan-Kettering) involving 2,049 smoking-related cancer cases and 1,666 controls. IL10 rs1800871 was inversely associated with oropharyngeal cancer (aOR: 0.69, 95% CI: 0.50-0.95) and positively associated with lung cancer among never smokers (aOR: 2.5, 95% CI: 1.3-5.1). TNF rs1799964 was inversely associated with smoking-related cancer in pooled never smokers (aOR: 0.36, 95% CI: 0.17-0.77). After Bayesian correction for multiple comparisons, IL10 rs1800871 and TNF rs1799964 emerged as noteworthy susceptibility markers for smoking-related cancers.

Traits studied:Bladder cancerEsophageal cancerKidney cancerLaryngeal cancerLiver cancerLung cancerOropharyngeal cancerSmoking-related cancersStomach cancer
Common variants in genes that mediate immunity and risk of multiple myeloma
AssociationN=672Elizabeth E. Brown et al.(2007)· International Journal of Cancer

A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.

Traits studied:Multiple myeloma
Genetic variation in tumor necrosis factor and lymphotoxin-alpha (TNF–LTA) and breast cancer risk
AssociationN=10,765Mia M. Gaudet et al.(2007)· Human Genetics

A large population-based case-control study of TNF-LTA genetic variation in 5,546 breast cancer cases and 5,219 controls (USA and Poland cohorts) found that the variant A allele of rs361525 in the TNF promoter region was associated with modestly increased breast cancer risk (per allele OR=1.18, 95% CI 1.04-1.35, p=0.008). Eight TNF and LTA SNPs were genotyped; haplotype analyses showed the GAG haplotype carrying rs361525 A was associated with elevated risk, while the well-studied TNF-308 variant (rs1800629) showed no association.

Traits studied:Breast cancer

About LTA

The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkin's lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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